By: Hannah Nugent
Types of dwarfism
• There are an estimated 200 types of dwarfism. Dwarfism means that a
person has an adult height of 4 feet 10 inches or shorter.
• Most types of dwarfism are known as skeletal dysplasias, which are
conditions of abnormal bone growth. They're divided into two types:
short-trunk and short-limb dysplasias.
•
People with short-trunk dysplasia have a shortened trunk with longer
limbs, whereas those with short-limb dysplasia have an average-sized
trunk but small arms and legs.
Inheritance Pattern
A mutation in the fibroblast growth factor
receptor 3 (FGFR3) gene
Inheriting the gene from a parent with
achondroplasia.
Dwarfism is a autosomal dominant pattern,
which means that one copy of the gene in
each cell is sufficient to cause the disorder.
Which means that if one of the parents with
achondroplasia passes the FGFR3 gene on to
the child, the child will likely develop the
condition.
Achondroplasia is the most common type of
short-limbed dwarfism. The condition
occurs in 1 in 15,000 to 40,000 newborns.
The gender does not matter, is can occur in
either female or male. Dwarfism is equally
distributed between all types of people.
Symptoms
• As a child with dwarfism grows, other issues may also become apparent,
including:
• delayed development of some motor skills, such as sitting up and walking
• a greater susceptibility to ear infections and hearing loss
• breathing problems caused by small chests
• curvature of the spine (scoliosis)
• bowed legs
• trouble with joint flexibility and early arthritis
• crowding of teeth in the jaw
Treatment/Cure/Deadly?
• There is no treatment to cure dwarfism. Hormonal or metabolic problems may be treated
with hormone injections or special diets to spark a child's growth, but skeletal dysplasias
cannot be cured. People with these types of dwarfism can get medical care for some of
the health problems that are associated with short stature.
• Dwarfism can be deadly because of all of the complications and health problems they
have, but mostly people that are diagnosed with dwarfism can live long fulfilling lives and
this disease usually does not shorten the lifespan.
Support groups
•
Human Growth Foundation
7777 Leesburg Pike (P.O. Box 309), Falls Church, VA 22043
Phone: (800) 451-6434 or (703) 883-1773Fax: (703) 883-1776
Web page: www.hgfound.orgLittle
People of America (LPA), Inc.P.O. Box 745, Lubbock, TX 79408
Toll free help line: 888.LPA.2001 (24 hours daily, voice mail & fax
E-mail: LPADataBase@juno.comRead more: Birth Defects - Support Groups -
Achondroplasia
http://www.medindia.net/patients/patientinfo/Support_Groups/Achondrop
lasia.htm#ixzz1CBbyykjU
Interesting Facts
• Nine out of ten children with achondroplasia have normal sized parents.
• Usually average sized kids with achondroplastic parnts are not at a higher risk of passing the
disease to their children
• Absolute prevention is NOT possible.
• Dwarfism is not a reason to assume someone is incapable. Little people go to school, go to
work, marry, and raise children, just like their average-size peers.
• Dwarfism is not an intellectual disability. A person who has dwarfism is typically of normal
intelligence.
Diagnosis/Location of
disorder.
• Some types of dwarfism can be identified through prenatal testing if a doctor
suspects a particular condition and tests for it. But most cases are not
identified until after the child is born. In those instances, the doctor makes a
diagnosis based on the child's appearance, failure to grow, and X-rays of the
bones. Depending on the type of dwarfism the child has, diagnosis often can
be made almost right after birth.
• The FGFR3 gene is located on the short arm of chromosome 4 at position
16.3. This achondroplasia location on chromosome 4 can affect the gene's
ability to direct the proper development and maintenance of bone.
Johnson, Trevor. Dwarfism Disorders 3 January 2009 26 January 2011
http://kidshealth.org/parent/growth/growth/dwarfism.html
Smith, Dylan. Dwarfism Support Groups Little People of America15 May 2010 26
January 2011
http://web.memberclicks.com/mc/page.do?sitePageId=37298&orgId=lpa